[Analysis of expression of FMR-1 gene in male patients with fragile X syndrome using RT-PCR].
OBJECTIVE
To search the relationship between fragile X male patients and expression of FMR-1 gene and to establish a rapid and simple method for screening male patients in general population.


METHODS
Two typical fragile X families demonstrated by cytogenetics method were analyzed by using RT-PCR.


RESULTS
No expression of FMR-1 gene in all male patients in the two families was noted, but all normal individuals showed expression of FMR-1 gene. There was an expression of HPRT gene as internal control in each of the individuals detected.


CONCLUSIONS
There is a strong relationship between loss of expression of FMR-1 gene and clinical phenotype of the fragile X male patients. Further research of this method will introduce a more simple and rapid method for detecting male patients with fragile X syndrome. This method may be used for general population screening.
Zhu
W
W
Department of Biology, Xinjiang Medical College, Urumqi, 830054 P. R. China.
Li
M
M
Zhao
Y
Y
D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D016601:RNA-Binding Proteins
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human